Canonical Allele Identifier: CA405406539
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848765A>C , CM000681.2:g.35848765A>C GRCh38
NC_000019.9:g.36339667A>C , CM000681.1:g.36339667A>C GRCh37
NC_000019.8:g.41031507A>C NCBI36
NG_013356.2:g.25523T>G , LRG_693:g.25523T>G
NG_051206.1:g.2131A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1042T>G MANE Select ENSP00000368190.4:p.Ser348Ala
ENST00000353632.6:c.1042T>G ENSP00000343634.5:p.Ser348Ala
ENST00000378910.9:c.1042T>G ENSP00000368190.4:p.Ser348Ala
ENST00000592132.1:n.49T>G
NM_004646.3:c.1042T>G , LRG_693t1:c.1042T>G NP_004637.1:p.Ser348Ala
NM_004646.4:c.1042T>G MANE Select NP_004637.1:p.Ser348Ala